JUN 21, 2018 6:00 AM PDT

Rapid Whole Genome Sequencing in the NICU and PICU Decreases Infant Morbidity and Mortality

Speaker

Abstract

Rare disease affects 30 million people in the United States, with nearly 50% of cases affecting children. Because nearly 80% of rare diseases are genetic, advancements in genomic testing are key to pinpointing an accurate diagnosis. The Rady Children’s Institute for Genomic Medicine has engineered a Whole Genome Sequencing process to rapidly decode, analyze and interpret the root causes of rare genetic disorders in newborns and children in intensive care in a matter of days. RCIGM president and CEO Stephen Kingsmore, MD, DSc, discusses how his team is working to equip clinicians with this critical information to facilitate medical decision making. 


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